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URL of this page: https://medlineplus.gov/genetics/gene/arfgef2/

ARFGEF2 gene

ARF guanine nucleotide exchange factor 2

Normal Function

The ARFGEF2 gene provides instructions for making a protein that helps with the movement (trafficking) of small sac-like structures (vesicles) within the cell. The ARFGEF2 protein converts a molecule called guanine diphosphate (GDP) to another molecule called guanine triphosphate (GTP). This reaction activates an ADP-ribosylation factor, a molecule that is involved in vesicle trafficking. Vesicles transport many types of molecules from the interior of the cell to its surface, where they may attach and interact with other substances, or be secreted by the cell.

Health Conditions Related to Genetic Changes

Periventricular heterotopia

A few mutations in the ARFGEF2 gene have been identified in individuals with periventricular heterotopia. These mutations may interfere with vesicle trafficking, which is important in controlling cell migration during the development of the brain. Nerve cells (neurons) that do not migrate properly during development form clumps around fluid-filled cavities (ventricles) near the center of the brain, resulting in the signs and symptoms of periventricular heterotopia.

Mutations in the ARFGEF2 gene may also result in weakening of the attachments (adhesion) between cells that form the lining of the ventricles, by impairing the trafficking of the molecules needed for this adhesion. A weakened ventricular lining could allow some neurons to form clumps around the ventricles while others migrate normally to the exterior of the brain, as seen in periventricular heterotopia.

More About This Health Condition

Other Names for This Gene

  • ADP-ribosylation factor guanine nucleotide-exchange factor 2
  • BIG2
  • BIG2_HUMAN
  • brefeldin A-inhibited guanine nucleotide-exchange protein 2

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

  • Lian G, Sheen V. Cerebral developmental disorders. Curr Opin Pediatr. 2006 Dec;18(6):614-20. doi: 10.1097/MOP.0b013e328010542d. Citation on PubMed
  • Lu J, Tiao G, Folkerth R, Hecht J, Walsh C, Sheen V. Overlapping expression of ARFGEF2 and Filamin A in the neuroependymal lining of the lateral ventricles: insights into the cause of periventricular heterotopia. J Comp Neurol. 2006 Jan 20;494(3):476-84. doi: 10.1002/cne.20806. Citation on PubMed
  • Sheen VL, Ganesh VS, Topcu M, Sebire G, Bodell A, Hill RS, Grant PE, Shugart YY, Imitola J, Khoury SJ, Guerrini R, Walsh CA. Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex. Nat Genet. 2004 Jan;36(1):69-76. doi: 10.1038/ng1276. Epub 2003 Nov 30. Citation on PubMed
  • Shin HW, Morinaga N, Noda M, Nakayama K. BIG2, a guanine nucleotide exchange factor for ADP-ribosylation factors: its localization to recycling endosomes and implication in the endosome integrity. Mol Biol Cell. 2004 Dec;15(12):5283-94. doi: 10.1091/mbc.e04-05-0388. Epub 2004 Sep 22. Citation on PubMed or Free article on PubMed Central
  • Shin HW, Shinotsuka C, Nakayama K. Expression of BIG2 and analysis of its function in mammalian cells. Methods Enzymol. 2005;404:206-15. doi: 10.1016/S0076-6879(05)04020-6. Citation on PubMed

The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health.